| Autor: |
Burdon KP; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Adelaide, South Australia, Australia. kathryn.burdon@flinders.edu.au, Durkin SR, Burke M, Edwards M, Pater J, Straga T, Gecz J, Liebelt JE, Craig JE |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics. Part A [Am J Med Genet A] 2009 Feb 15; Vol. 149A (4), pp. 633-9. |
| DOI: |
10.1002/ajmg.a.32726 |
| Abstrakt: |
A novel syndrome initially presenting with cataract and developmental delay within an Indigenous Australian family is described. We present the extended four generation pedigree and describe in detail the phenotypic appearance of five clearly affected male second cousins in this family. The common features of these children include developmental delay, short stature, cortical cataract, facial dysmorphism, clinodactyly, thin hair and an erythematous skin rash. Initial inspection of the pedigree suggested an inherited disorder with possible X-linked inheritance. However, a thorough scan of the X chromosome failed to reveal linkage. This family represents a new syndrome of familial cataract, dysmorphic features, short stature and developmental delay with probable autosomal inheritance and variable expressivity. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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